Ontology highlight
ABSTRACT:
SUBMITTER: Hunt KA
PROVIDER: S-EPMC3736321 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
Hunt Karen A KA Mistry Vanisha V Bockett Nicholas A NA Ahmad Tariq T Ban Maria M Barker Jonathan N JN Barrett Jeffrey C JC Blackburn Hannah H Brand Oliver O Burren Oliver O Capon Francesca F Compston Alastair A Gough Stephen C L SC Jostins Luke L Kong Yong Y Lee James C JC Lek Monkol M MacArthur Daniel G DG Mansfield John C JC Mathew Christopher G CG Mein Charles A CA Mirza Muddassar M Nutland Sarah S Onengut-Gumuscu Suna S Papouli Efterpi E Parkes Miles M Rich Stephen S SS Sawcer Steven S Satsangi Jack J Simmonds Matthew J MJ Trembath Richard C RC Walker Neil M NM Wozniak Eva E Todd John A JA Simpson Michael A MA Plagnol Vincent V van Heel David A DA
Nature 20130522 7453
Genome-wide association studies (GWAS) have identified common variants of modest-effect size at hundreds of loci for common autoimmune diseases; however, a substantial fraction of heritability remains unexplained, to which rare variants may contribute. To discover rare variants and test them for association with a phenotype, most studies re-sequence a small initial sample size and then genotype the discovered variants in a larger sample set. This approach fails to analyse a large fraction of the ...[more]